congenital disorder of glycosylation type IId

Term ID

DOID:0070256

Synonyms

• CDG IId
• CDG2D
• CDGIId

Definition

A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1. https://www.ncbi.nlm.nih.gov/pubmed/11901181

References

• GARD:9841
• MESH:C535753
• OMIM:607091
• ORDO:79332
• SNOMEDCT_US_2023_03_01:725587007
• UMLS_CUI:C2931009

Ontology

Human Disease   ( DOID:0070256 )